ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala)

dbSNP: rs780643984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732032 SCV000859908 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV001855671 SCV002261139 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1794 of the PKHD1 protein (p.Val1794Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs780643984, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596265). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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